Publications by authors named "Salma A Nassef"
Article Synopsis
- * Specific genetic changes in TBX4, particularly at the Glu86 position, have been implicated in conditions like acinar dysplasia (AcDys) and congenital alveolar dysplasia (CAD), affecting lung development and function.
- * Research shows that mutations at Glu86 can disrupt the protein's structure and function by reducing crucial molecular interactions, which may negatively impact early lung development and potentially lead to respiratory issues.
Prenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made.
View Article and Find Full Text PDFObjective: Diagnostic whole exome sequencing (WES) is rapidly entering clinical genetics, but experience with reproductive genetic counseling aspects is limited. The purpose of this study was to retrospectively review and report on our experience with preconception and prenatal genetic counseling for diagnostic WES.
Method: We performed a retrospective chart review over 34 months in a large private prenatal genetic counseling practice and analyzed data for referral indications, findings, and results of genetic counseling related to diagnostic WES.